[HTML][HTML] Advances in Huntington's Disease Biomarkers: A 10-Year Bibliometric Analysis and a Comprehensive Review
S Aqel, J Ahmad, I Saleh, A Fathima, AA Al Thani… - Biology, 2025 - mdpi.com
Neurodegenerative disorders (NDs) cause progressive neuronal loss and are a significant
public health concern, with NDs projected to become the second leading global cause of …
public health concern, with NDs projected to become the second leading global cause of …
Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study
M Foddis, S Blumenau, S Mueller, C Messerschmidt… - Stroke, 2024 - ahajournals.org
BACKGROUND: Contrary to the common belief, the most commonly used laboratory
C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and …
C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and …
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
Background The identification of a heterozygous exonic GGC repeat expansion in ZFHX3
underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25‐year diagnostic …
underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25‐year diagnostic …
[HTML][HTML] CAGn Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men
V Chernykh, O Solovova, T Sorokina, M Shtaut… - International Journal of …, 2024 - mdpi.com
The androgen receptor (AR) is critical for mediating the effects of androgens. The
polymorphic CAG n locus in exon 1 of the AR gene is associated with several diseases …
polymorphic CAG n locus in exon 1 of the AR gene is associated with several diseases …
Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease
Background Alexander disease is an autosomal dominant leukodystrophy caused by
heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although …
heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although …
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current …
Objective Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder
with symptom onset≥ 30 years of age. Intronic tandem repeat expansions (TREs) in RFC1 …
with symptom onset≥ 30 years of age. Intronic tandem repeat expansions (TREs) in RFC1 …